MCID: TRC034
MIFTS: 17

Torch Syndrome malady

Summaries for Torch Syndrome

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32MalaCards
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MalaCards: Torch Syndrome is related to pseudo-torch syndrome and aicardi-goutieres syndrome. An important gene associated with Torch Syndrome is OCLN (occludin), and among its related pathways are Cell adhesion molecules (CAMs) and Tight junction. The compounds uridine and pseudouridine have been mentioned in the context of this disorder. Related mouse phenotypes are tumorigenesis and digestive/alimentary.

Aliases & Classifications for Torch Syndrome

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Sources:
42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

torch syndrome 42 60


Related Diseases for Torch Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Pseudo-Torch Syndrome family:

torch syndrome

Diseases related to Torch Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pseudo-torch syndrome30.8DKC1, OCLN, JAM3, COL4A1
2aicardi-goutieres syndrome10.2
3aicardi-goutieres syndrome 1, dominant and recessive10.0
4aplastic anemia10.0TERC
5dyskeratosis congenita autosomal dominant10.0TERC, DKC1
6leukoplakia10.0TERC, DKC1
7dyskeratosis congenita10.0TERC, DKC1

Graphical network of diseases related to Torch Syndrome:



Diseases related to torch syndrome

Clinical Features for Torch Syndrome

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Drugs & Therapeutics for Torch Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Torch Syndrome

Drug clinical trials:

Search ClinicalTrials for Torch Syndrome

Search NIH Clinical Center for Torch Syndrome

Search CenterWatch for Torch Syndrome

Genetic Tests for Torch Syndrome

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Anatomical Context for Torch Syndrome

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Animal Models for Torch Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Torch Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7TERC, DKC1, JAM3
2MP:00053818.6TERC, OCLN, JAM3
3MP:00053888.2TERC, DKC1, JAM3
4MP:00053868.2COL4A1, JAM3, OCLN, TERC
5MP:00053978.2COL4A1, JAM3, DKC1, TERC
6MP:00053878.1TERC, DKC1, OCLN, JAM3
7MP:00036318.1COL4A1, JAM3, OCLN, TERC
8MP:00053847.9COL4A1, JAM3, DKC1, TERC
9MP:00053897.8TERC, DKC1, OCLN, JAM3, COL4A1
10MP:00053787.7COL4A1, JAM3, OCLN, DKC1, TERC

Publications for Torch Syndrome

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Genetic Variations for Torch Syndrome

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Expression for genes affiliated with Torch Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Torch Syndrome

Search GEO for disease gene expression data for Torch Syndrome.

Pathways for genes affiliated with Torch Syndrome

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Sources:
29KEGG, 51QIAGEN, 12EMD Millipore
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Pathways related to Torch Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2OCLN, JAM3
29.2OCLN, JAM3
39.2JAM3, OCLN
4
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8.7OCLN, JAM3, COL4A1
5
Cell adhesion Integrin-mediated cell adhesion and migration
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8.7OCLN, JAM3, COL4A1

Compounds for genes affiliated with Torch Syndrome

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Sources:
44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Torch Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1uridine44 11 2411.3TERC, DKC1
2pseudouridine44 2410.2TERC, DKC1
3rrna449.0TERC, DKC1

GO Terms for genes affiliated with Torch Syndrome

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16Gene Ontology
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Cellular components related to Torch Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tight junctionGO:0059239.2OCLN, JAM3

Biological processes related to Torch Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1angiogenesisGO:0015259.1JAM3, COL4A1

Products for genes affiliated with Torch Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Torch Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet